Variant report

Variant	rs569176104
Chromosome Location	chr21:40554967-40554968
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40554888-40556110	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr21:40554959-40555916	ECC-1	luminal epithelium:	n/a	chr21:40555869-40555885
3	USF2	chr21:40554746-40555786	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr21:40554575-40556243	MCF-7	breast:	n/a	n/a
5	MAX	chr21:40554449-40556159	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
6	YY1	chr21:40554889-40556121	GM12892	blood:	n/a	chr21:40555795-40555806 chr21:40556007-40556016
7	CEBPD	chr21:40554774-40556157	K562	blood:	n/a	n/a
8	POLR2A	chr21:40554769-40556234	H1-neurons	neurons:	n/a	n/a
9	ELF1	chr21:40554679-40556142	GM12878	blood:	n/a	n/a
10	BRCA1	chr21:40554764-40556046	Hela-S3	cervix:	n/a	n/a
11	FOXM1	chr21:40554836-40556178	MCF-7	breast:	n/a	n/a
12	PML	chr21:40554921-40556323	MCF-7	breast:	n/a	n/a
13	POLR2A	chr21:40554922-40556221	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr21:40554534-40556257	MCF-7	breast:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
15	ZNF274	chr21:40554952-40555538	K562	blood:	n/a	n/a
16	POLR2A	chr21:40554929-40556187	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr21:40554104-40556218	NB4	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
18	TAF1	chr21:40554746-40556191	ECC-1	luminal epithelium:	n/a	n/a
19	HDAC2	chr21:40554592-40556281	MCF-7	breast:	n/a	chr21:40555466-40555475
20	TAF7	chr21:40554880-40555618	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr21:40554629-40556282	MCF-7	breast:	n/a	chr21:40555407-40555416 chr21:40555482-40555491
22	MAX	chr21:40554608-40556254	ECC-1	luminal epithelium:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
23	E2F6	chr21:40554707-40555610	K562	blood:	n/a	n/a
24	MAX	chr21:40554952-40556039	H1-hESC	embryonic stem cell:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
25	TBP	chr21:40554331-40556457	K562	blood:	n/a	n/a
26	MAX	chr21:40554338-40556187	Hela-S3	cervix:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
27	BACH1	chr21:40554695-40555957	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr21:40554697-40556135	K562	blood:	n/a	chr21:40555795-40555806 chr21:40556007-40556016
29	POLR2A	chr21:40554781-40556177	MCF-7	breast:	n/a	n/a
30	CCNT2	chr21:40554730-40556279	K562	blood:	n/a	n/a
31	MYC	chr21:40554007-40556427	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
32	POLR2A	chr21:40554254-40556348	Hela-S3	cervix:	n/a	n/a
33	TCF7L2	chr21:40554941-40556120	HCT-116	colon:	n/a	n/a
34	RUNX3	chr21:40554698-40556180	GM12878	blood:	n/a	n/a
35	POLR2A	chr21:40554900-40556162	K562	blood:	n/a	n/a
36	POLR2A	chr21:40553981-40556152	IMR90	lung:	n/a	n/a
37	SIN3AK20	chr21:40554464-40556404	MCF-7	breast:	n/a	n/a
38	POLR2A	chr21:40554881-40556209	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr21:40554733-40556335	A549	lung:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
40	TEAD4	chr21:40553883-40556682	K562	blood:	n/a	n/a
41	HCFC1	chr21:40554609-40556120	K562	blood:	n/a	n/a
42	POLR2A	chr21:40554921-40556177	GM15510	blood:	n/a	n/a
43	MYC	chr21:40554497-40556106	NB4	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
44	PML	chr21:40554964-40556269	K562	blood:	n/a	n/a
45	MAX	chr21:40554878-40556212	HCT-116	colon:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
46	MAX	chr21:40554683-40556243	HepG2	liver:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
47	HDAC2	chr21:40554613-40555500	MCF-7	breast:	n/a	chr21:40555466-40555475
48	POLR2A	chr21:40554693-40556163	ECC-1	luminal epithelium:	n/a	n/a
49	PAX5	chr21:40554963-40556128	GM12878	blood:	n/a	chr21:40555467-40555476
50	MXI1	chr21:40553519-40556556	IMR90	lung:	n/a	chr21:40554025-40554034

No.	Distal block	Cell Line	Cell type
1	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
2	chr21:40554206..40555769-chr21:40571633..40573834,2	K562	blood:
3	chr21:40552516..40555515-chr21:40758943..40760790,2	MCF-7	breast:
4	chr21:40552682..40557546-chr21:40815502..40820280,12	K562	blood:
5	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
6	chr21:40554325..40556073-chr21:40808791..40811765,2	K562	blood:
7	chr21:40552682..40557091-chr21:40814575..40819975,14	K562	blood:
8	chr21:40554651..40557222-chr21:40599686..40602201,3	K562	blood:
9	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
10	chr21:40554460..40556456-chr21:40823248..40825971,3	K562	blood:
11	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
12	chr21:40554955..40557163-chr21:40823681..40826162,2	K562	blood:
13	chr21:40553901..40555576-chr21:40760955..40763916,2	K562	blood:
14	chr21:40552621..40555799-chr21:40758034..40760615,3	K562	blood:
15	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
16	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
17	chr21:40552640..40555791-chr21:40749339..40752310,3	K562	blood:
18	chr21:40554637..40556936-chr21:40588612..40590641,2	K562	blood:
19	chr21:40553976..40556398-chr21:40816228..40819085,2	MCF-7	breast:
20	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:
21	chr21:40032723..40034705-chr21:40552796..40555245,2	MCF-7	breast:
22	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:

Variant related genes	Relation type
PSMG1	TF binding region
ENSG00000272991	TF binding region
ENSG00000238141	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000157554	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000157557	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3422692	chr21:40554107-40556955	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40553000-40556600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:40553600-40555000	Flanking Active TSS	Dnd41	blood
3	chr21:40553600-40557200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr21:40553800-40555000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40553800-40555200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:40553800-40556200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:40553800-40557000	Active TSS	GM12878-XiMat	blood
8	chr21:40554000-40555000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:40554000-40555000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr21:40554000-40555000	Flanking Active TSS	Liver	Liver
11	chr21:40554000-40555000	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr21:40554000-40555000	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr21:40554000-40555000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr21:40554000-40555200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr21:40554000-40555200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr21:40554000-40555200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr21:40554000-40555200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr21:40554000-40556400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:40554000-40556400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr21:40554000-40556600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:40554000-40556600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:40554000-40556600	Active TSS	Colonic Mucosa	Colon
23	chr21:40554000-40556600	Active TSS	Fetal Muscle Trunk	muscle
24	chr21:40554000-40556600	Active TSS	A549	lung
25	chr21:40554000-40556800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:40554000-40557200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:40554200-40555000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr21:40554200-40555000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr21:40554200-40555000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr21:40554200-40555000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr21:40554200-40555000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr21:40554200-40555200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr21:40554200-40555200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr21:40554200-40556200	Active TSS	Esophagus	oesophagus
35	chr21:40554200-40556200	Active TSS	Lung	lung
36	chr21:40554200-40556200	Active TSS	Pancreas	Pancrea
37	chr21:40554200-40556400	Active TSS	Psoas Muscle	Psoas
38	chr21:40554200-40556600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr21:40554200-40556600	Active TSS	Right Ventricle	heart
40	chr21:40554400-40555000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:40554400-40555000	Active TSS	Right Atrium	heart
42	chr21:40554400-40555000	Bivalent/Poised TSS	HepG2	liver
43	chr21:40554400-40555200	Active TSS	Brain Germinal Matrix	brain
44	chr21:40554400-40556200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:40554400-40556200	Active TSS	Brain Anterior Caudate	brain
46	chr21:40554400-40556200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr21:40554400-40556400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:40554400-40556400	Active TSS	Colon Smooth Muscle	Colon
49	chr21:40554400-40556400	Active TSS	Ovary	ovary
50	chr21:40554400-40556400	Active TSS	Hela-S3	cervix

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